### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UCP1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "UCP1" "uncoupling protein 1" "4" "q31.1" "unknown" "NG_012139.1" "UD_144425786287" "" "" "" "1" "12517" "7350" "113730" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-17 13:20:00" "" "" "00005" "2021-08-01 12:56:30" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000102" "UCP1" "uncoupling protein 1" "003" "NM_021833.4" "" "NP_068605.1" "" "" "" "-76" "924" "924" "140568805" "140559896" "00001" "2021-01-17 13:20:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00048" "-" "Obesity" "" "" "" "" "" "00001" "2020-12-22 14:56:53" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UCP1" "00048" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000359" "" "" "" "1" "" "00002" "{PMID:Kah-Hui Lee et al. (2015):25812254}" "" "" "Malaysia" "" "" "" "00000424" "" "" "" "1" "" "00004" "{PMID:Lee et al.(2015):25812254}" "" "" "Setapak, Kuala Lumpur" "Malay" "" "" "00000425" "" "" "" "1" "" "00004" "{PMID:Lee et al.(2015):25812254}" "" "" "Setapak, Kuala Lumpur" "Chinese" "" "" "00000427" "" "" "" "1" "" "00004" "{PMID:Lee et al.(2015):25812254}" "" "" "Setapak, Kuala Lumpur" "Indian" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000359" "00048" "00000424" "00048" "00000425" "00048" "00000427" "00048" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00048 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000373" "00000359" "1" "00002" "00002" "2021-01-17 14:31:17" "" "" "PCR" "DNA" "0000000451" "00000424" "1" "00004" "00004" "2021-02-17 15:29:26" "" "" "PCRdig" "DNA" "0000000453" "00000425" "1" "00004" "00004" "2021-02-17 15:40:37" "" "" "PCRdig" "DNA" "0000000456" "00000427" "1" "00004" "00004" "2021-02-17 15:45:02" "" "" "PCRdig" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000000373" "UCP1" "0000000451" "UCP1" "0000000453" "UCP1" "0000000456" "UCP1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 5 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001646" "0" "90" "4" "140572555" "140572555" "subst" "0" "00002" "UCP1_000001" "g.140572555T>C" "58/111" "{PMID:Kah-Hui Lee et al. (2015):25812254}" "" "" "" "0000001647" "0" "90" "4" "140572555" "140572555" "subst" "0" "00002" "UCP1_000001" "g.140572555T>C" "28/111" "{PMID:Kah-Hui Lee et al. (2015):25812254}" "" "" "" "0000002004" "0" "90" "4" "140572555" "140572555" "subst" "0" "00004" "UCP1_000001" "g.140572555T>C" "" "{PMID:Lee et al.(2015):25812254}" "" "" "rs1800592" "0000002006" "0" "90" "4" "140572555" "140572555" "subst" "0" "00004" "UCP1_000001" "g.140572555T>C" "" "{PMID:Lee et al.(2015):25812254}" "" "" "rs1800592" "0000002008" "0" "90" "4" "140572555" "140572555" "subst" "0" "00004" "UCP1_000001" "g.140572555T>C" "" "{PMID:Lee et al.(2015):25812254}" "" "" "rs1800592" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes UCP1 ## Count = 5 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001646" "00000102" "90" "-3826" "0" "-3826" "0" "c.-3826A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001647" "00000102" "90" "-3826" "0" "-3826" "0" "c.-3826A>G" "" "p.(=)" "r.(=)" "" "" "" "0000002004" "00000102" "90" "-3826" "0" "-3826" "0" "c.-3826A>G" "" "p.(=)" "r.(=)" "" "" "" "0000002006" "00000102" "90" "-3826" "0" "-3826" "0" "c.-3826A>G" "" "p.(=)" "r.(=)" "" "" "" "0000002008" "00000102" "90" "-3826" "0" "-3826" "0" "c.-3826A>G" "" "p.(=)" "r.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000000373" "0000001646" "0000000373" "0000001647" "0000000451" "0000002004" "0000000453" "0000002006" "0000000456" "0000002008"